Disease Information

General Information of the Disease (ID: DIS00374)

• Name: Hereditary elliptocytosis
• ICD: ICD-11: 3A10

Type(s) of Resistant Mechanism of This Disease

  UAPP: Unusual Activation of Pro-survival Pathway

Drug Resistance Data Categorized by Drug

Approved Drug(s) 1 drug(s) in total

Ruxolitinib

Drug Sensitivity Data Categorized by Their Corresponding Mechanisms

Unusual Activation of Pro-survival Pathway (UAPP)

Key Molecule: Von Hippel-Lindau disease tumor suppressor (VHL) [1]

• Sensitive Disease: Familial erythrocytosis 2 [ICD-11: 3A10.2]
• Molecule Alteration: Missense mutation; p.R200W (c.598C>T)
• Sensitive Drug: Ruxolitinib
• Experimental Note: Identified from the Human Clinical Data
• Cell Pathway Regulation: JAKT2/STAT3 signaling pathway; Inhibition; hsa04030

References

• Ref 1: Clinical Improvement with JAK2 Inhibition in Chuvash PolycythemiaN Engl J Med. 2016 Aug 4;375(5):494-6. doi: 10.1056/NEJMc1600337.